MutationTaster - study a chromosomal position

NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000439118
Querying Taster for transcript #2: ENST00000361124
Querying Taster for transcript #3: ENST00000536814
Querying Taster for transcript #4: ENST00000542887
MT speed 0 s - this script 3.465272 s

Results

genesymbol	prediction	probability	model	prediction problem	splicing	ClinVar	amino acid changes	variant type	dbSNP ID	protein length	file
ITPRIPL1	polymorphism_automatic	8.85815679696478e-08	simple_aae		affected		T471M	single base exchange	rs2279105		show file
ITPRIPL1	polymorphism_automatic	8.85815679696478e-08	simple_aae		affected		T463M	single base exchange	rs2279105		show file
ITPRIPL1	polymorphism_automatic	8.85815679696478e-08	simple_aae		affected		T455M	single base exchange	rs2279105		show file
ITPRIPL1	polymorphism_automatic	8.85815679696478e-08	simple_aae		affected		T455M	single base exchange	rs2279105		show file

Taster files

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999911418432 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:96993757C>TN/A show variant in all transcripts IGV

HGNC symbol

ITPRIPL1

Ensembl transcript ID

ENST00000361124

Genbank transcript ID

NM_178495

UniProt peptide

Q6GPH6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1412C>T
cDNA.1823C>T
g.2689C>T

AA changes

T471M Score: 81 explain score(s)

position(s) of altered AA
if AA alteration in CDS

471

frameshift

known variant

Reference ID: rs2279105

database	homozygous (T/T)	heterozygous	allele carriers
1000G	428	950	1378
ExAC	8918	14931	23849

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.496	0.047
	2.221	0.108
(flanking)	-0.645	0.097

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2687	wt: 0.25 / mu: 0.49	wt: CTCTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACAT mu: CTCTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACAT	cctc\|ACGG
Acc marginally increased	2691	wt: 0.7691 / mu: 0.8437 (marginal change - not scored)	wt: TGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGCTC mu: TGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGCTC	acgg\|ACTG

distance from splice site

334

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

471

mutated

not conserved

471

Ptroglodytes

all identical

ENSPTRG00000012231

471

Mmulatta

all identical

ENSMMUG00000023268

462

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074825

455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	555	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1692 / 1692

position (AA) of stopcodon in wt / mu AA sequence

564 / 564

position of stopcodon in wt / mu cDNA

2103 / 2103

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

412 / 412

chromosome

strand

last intron/exon boundary

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1692

coding sequence (CDS) position

1412

cDNA position
(for ins/del: last normal base / first normal base)

1823

gDNA position
(for ins/del: last normal base / first normal base)

2689

chromosomal position
(for ins/del: last normal base / first normal base)

96993757

original gDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered gDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

original cDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered cDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

wildtype AA sequence

MTTDSYSPTS PDAEASMAVI SLLFLAVMYV VHHPLMVSDR MDLDTLARSR QLEKRMSEEM
RLLEMEFEER KRAAEQRQKA ENFWTGDTSS DQLVLGKKDM GWPFQADGQE GPLGWMLGNL
WNTGLFCLFL VFELLRQNMQ HEPAFDSSSE EEEEEVRVVP VTSYNWLTDF PSQEALDSFY
KHYVQNAIRD LPCTCEFVES FVDDLIEACR VLSRQEAHPQ LEDCLGIGAA FEKWGTLHET
QKFDILVPIV PPQGTMFVLE MRDPALGRRC GCVLVESECV CKREKLLGDV LCLVHHHRDP
SAVLGKCSSS IKAALCTGFH LDVCKTVQWF RNMMGNAWAL VAHKYDFKLS LPPSTTSCKL
RLDYRSGRFL SIHLVLGVQR EDTLVYLVSQ APDQEQLTSV DWPESFVACE HLFLKLVGRF
APENTCHLKC LQIILSLRQH QSLPHGASRP ILTSYHFKTA LMHLLLRLPL TDWAHNMLSQ
RLQDILWFLG RGLQQRSLHH FLIGNNFLPL TIPIPKTFRN AEPVNLFQHL VLNPKAHSQA
VEEFQNLLTQ VKTLPHAPLA AAP*

mutated AA sequence

MTTDSYSPTS PDAEASMAVI SLLFLAVMYV VHHPLMVSDR MDLDTLARSR QLEKRMSEEM
RLLEMEFEER KRAAEQRQKA ENFWTGDTSS DQLVLGKKDM GWPFQADGQE GPLGWMLGNL
WNTGLFCLFL VFELLRQNMQ HEPAFDSSSE EEEEEVRVVP VTSYNWLTDF PSQEALDSFY
KHYVQNAIRD LPCTCEFVES FVDDLIEACR VLSRQEAHPQ LEDCLGIGAA FEKWGTLHET
QKFDILVPIV PPQGTMFVLE MRDPALGRRC GCVLVESECV CKREKLLGDV LCLVHHHRDP
SAVLGKCSSS IKAALCTGFH LDVCKTVQWF RNMMGNAWAL VAHKYDFKLS LPPSTTSCKL
RLDYRSGRFL SIHLVLGVQR EDTLVYLVSQ APDQEQLTSV DWPESFVACE HLFLKLVGRF
APENTCHLKC LQIILSLRQH QSLPHGASRP ILTSYHFKTA LMHLLLRLPL MDWAHNMLSQ
RLQDILWFLG RGLQQRSLHH FLIGNNFLPL TIPIPKTFRN AEPVNLFQHL VLNPKAHSQA
VEEFQNLLTQ VKTLPHAPLA AAP*

speed

0.80 s

All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999911418432 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:96993757C>TN/A show variant in all transcripts IGV

HGNC symbol

ITPRIPL1

Ensembl transcript ID

ENST00000439118

Genbank transcript ID

NM_001008949

UniProt peptide

Q6GPH6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1388C>T
cDNA.1639C>T
g.2689C>T

AA changes

T463M Score: 81 explain score(s)

position(s) of altered AA
if AA alteration in CDS

463

frameshift

known variant

Reference ID: rs2279105

database	homozygous (T/T)	heterozygous	allele carriers
1000G	428	950	1378
ExAC	8918	14931	23849

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.496	0.047
	2.221	0.108
(flanking)	-0.645	0.097

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2687	wt: 0.25 / mu: 0.49	wt: CTCTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACAT mu: CTCTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACAT	cctc\|ACGG
Acc marginally increased	2691	wt: 0.7691 / mu: 0.8437 (marginal change - not scored)	wt: TGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGCTC mu: TGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGCTC	acgg\|ACTG

distance from splice site

308

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

463

mutated

not conserved

463

Ptroglodytes

all identical

ENSPTRG00000012231

471

Mmulatta

all identical

ENSMMUG00000023268

462

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074825

455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	555	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1668 / 1668

position (AA) of stopcodon in wt / mu AA sequence

556 / 556

position of stopcodon in wt / mu cDNA

1919 / 1919

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

252 / 252

chromosome

strand

last intron/exon boundary

262

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1668

coding sequence (CDS) position

1388

cDNA position
(for ins/del: last normal base / first normal base)

1639

gDNA position
(for ins/del: last normal base / first normal base)

2689

chromosomal position
(for ins/del: last normal base / first normal base)

96993757

original gDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered gDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

original cDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered cDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

wildtype AA sequence

MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE EMRLLEMEFE
ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG QEGPLGWMLG NLWNTGLFCL
FLVFELLRQN MQHEPAFDSS SEEEEEEVRV VPVTSYNWLT DFPSQEALDS FYKHYVQNAI
RDLPCTCEFV ESFVDDLIEA CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP
IVPPQGTMFV LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC KLRLDYRSGR
FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA CEHLFLKLVG RFAPENTCHL
KCLQIILSLR QHQSLPHGAS RPILTSYHFK TALMHLLLRL PLTDWAHNML SQRLQDILWF
LGRGLQQRSL HHFLIGNNFL PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL
TQVKTLPHAP LAAAP*

mutated AA sequence

MNVDAEASMA VISLLFLAVM YVVHHPLMVS DRMDLDTLAR SRQLEKRMSE EMRLLEMEFE
ERKRAAEQRQ KAENFWTGDT SSDQLVLGKK DMGWPFQADG QEGPLGWMLG NLWNTGLFCL
FLVFELLRQN MQHEPAFDSS SEEEEEEVRV VPVTSYNWLT DFPSQEALDS FYKHYVQNAI
RDLPCTCEFV ESFVDDLIEA CRVLSRQEAH PQLEDCLGIG AAFEKWGTLH ETQKFDILVP
IVPPQGTMFV LEMRDPALGR RCGCVLVESE CVCKREKLLG DVLCLVHHHR DPSAVLGKCS
SSIKAALCTG FHLDVCKTVQ WFRNMMGNAW ALVAHKYDFK LSLPPSTTSC KLRLDYRSGR
FLSIHLVLGV QREDTLVYLV SQAPDQEQLT SVDWPESFVA CEHLFLKLVG RFAPENTCHL
KCLQIILSLR QHQSLPHGAS RPILTSYHFK TALMHLLLRL PLMDWAHNML SQRLQDILWF
LGRGLQQRSL HHFLIGNNFL PLTIPIPKTF RNAEPVNLFQ HLVLNPKAHS QAVEEFQNLL
TQVKTLPHAP LAAAP*

speed

0.47 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999911418432 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:96993757C>TN/A show variant in all transcripts IGV

HGNC symbol

ITPRIPL1

Ensembl transcript ID

ENST00000536814

Genbank transcript ID

NM_001163523

UniProt peptide

Q6GPH6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1364C>T
cDNA.1613C>T
g.2689C>T

AA changes

T455M Score: 81 explain score(s)

position(s) of altered AA
if AA alteration in CDS

455

frameshift

known variant

Reference ID: rs2279105

database	homozygous (T/T)	heterozygous	allele carriers
1000G	428	950	1378
ExAC	8918	14931	23849

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.496	0.047
	2.221	0.108
(flanking)	-0.645	0.097

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2687	wt: 0.25 / mu: 0.49	wt: CTCTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACAT mu: CTCTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACAT	cctc\|ACGG
Acc marginally increased	2691	wt: 0.7691 / mu: 0.8437 (marginal change - not scored)	wt: TGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGCTC mu: TGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGCTC	acgg\|ACTG

distance from splice site

335

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

all identical

ENSPTRG00000012231

471

Mmulatta

all identical

ENSMMUG00000023268

462

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074825

455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	555	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1644 / 1644

position (AA) of stopcodon in wt / mu AA sequence

548 / 548

position of stopcodon in wt / mu cDNA

1893 / 1893

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

250 / 250

chromosome

strand

last intron/exon boundary

236

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1644

coding sequence (CDS) position

1364

cDNA position
(for ins/del: last normal base / first normal base)

1613

gDNA position
(for ins/del: last normal base / first normal base)

2689

chromosomal position
(for ins/del: last normal base / first normal base)

96993757

original gDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered gDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

original cDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered cDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

wildtype AA sequence

MAVISLLFLA VMYVVHHPLM VSDRMDLDTL ARSRQLEKRM SEEMRLLEME FEERKRAAEQ
RQKAENFWTG DTSSDQLVLG KKDMGWPFQA DGQEGPLGWM LGNLWNTGLF CLFLVFELLR
QNMQHEPAFD SSSEEEEEEV RVVPVTSYNW LTDFPSQEAL DSFYKHYVQN AIRDLPCTCE
FVESFVDDLI EACRVLSRQE AHPQLEDCLG IGAAFEKWGT LHETQKFDIL VPIVPPQGTM
FVLEMRDPAL GRRCGCVLVE SECVCKREKL LGDVLCLVHH HRDPSAVLGK CSSSIKAALC
TGFHLDVCKT VQWFRNMMGN AWALVAHKYD FKLSLPPSTT SCKLRLDYRS GRFLSIHLVL
GVQREDTLVY LVSQAPDQEQ LTSVDWPESF VACEHLFLKL VGRFAPENTC HLKCLQIILS
LRQHQSLPHG ASRPILTSYH FKTALMHLLL RLPLTDWAHN MLSQRLQDIL WFLGRGLQQR
SLHHFLIGNN FLPLTIPIPK TFRNAEPVNL FQHLVLNPKA HSQAVEEFQN LLTQVKTLPH
APLAAAP*

mutated AA sequence

MAVISLLFLA VMYVVHHPLM VSDRMDLDTL ARSRQLEKRM SEEMRLLEME FEERKRAAEQ
RQKAENFWTG DTSSDQLVLG KKDMGWPFQA DGQEGPLGWM LGNLWNTGLF CLFLVFELLR
QNMQHEPAFD SSSEEEEEEV RVVPVTSYNW LTDFPSQEAL DSFYKHYVQN AIRDLPCTCE
FVESFVDDLI EACRVLSRQE AHPQLEDCLG IGAAFEKWGT LHETQKFDIL VPIVPPQGTM
FVLEMRDPAL GRRCGCVLVE SECVCKREKL LGDVLCLVHH HRDPSAVLGK CSSSIKAALC
TGFHLDVCKT VQWFRNMMGN AWALVAHKYD FKLSLPPSTT SCKLRLDYRS GRFLSIHLVL
GVQREDTLVY LVSQAPDQEQ LTSVDWPESF VACEHLFLKL VGRFAPENTC HLKCLQIILS
LRQHQSLPHG ASRPILTSYH FKTALMHLLL RLPLMDWAHN MLSQRLQDIL WFLGRGLQQR
SLHHFLIGNN FLPLTIPIPK TFRNAEPVNL FQHLVLNPKA HSQAVEEFQN LLTQVKTLPH
APLAAAP*

speed

0.29 s

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999911418432 (classification due to TGP/ExAC, real probability is shown anyway) (explain)

Summary

amino acid sequence changed
homozygous in TGP or ExAC
protein features (might be) affected
splice site changes

hyperlink

analysed issue

analysis result

name of alteration

no title

alteration (phys. location)

chr2:96993757C>TN/A show variant in all transcripts IGV

HGNC symbol

ITPRIPL1

Ensembl transcript ID

ENST00000542887

Genbank transcript ID

NM_001163524

UniProt peptide

Q6GPH6

alteration type

single base exchange

alteration region

CDS

DNA changes

c.1364C>T
cDNA.1480C>T
g.2689C>T

AA changes

T455M Score: 81 explain score(s)

position(s) of altered AA
if AA alteration in CDS

455

frameshift

known variant

Reference ID: rs2279105

database	homozygous (T/T)	heterozygous	allele carriers
1000G	428	950	1378
ExAC	8918	14931	23849

regulatory features

H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation

phyloP / phastCons

	PhyloP	PhastCons
(flanking)	0.496	0.047
	2.221	0.108
(flanking)	-0.645	0.097

explain score(s) and/or inspect your position(s) in in UCSC Genome Browser

splice sites

effect	gDNA position	score	wt detection sequence	exon-intron border
Acc increased	2687	wt: 0.25 / mu: 0.49	wt: CTCTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACAT mu: CTCTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACAT	cctc\|ACGG
Acc marginally increased	2691	wt: 0.7691 / mu: 0.8437 (marginal change - not scored)	wt: TGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGCTC mu: TGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGCTC	acgg\|ACTG

distance from splice site

335

Kozak consensus sequence altered?

N/A

conservation
protein level for non-synonymous changes

species

match

gene

alignment

Human

455

mutated

not conserved

455

Ptroglodytes

all identical

ENSPTRG00000012231

471

Mmulatta

all identical

ENSMMUG00000023268

462

Fcatus

no homologue

Mmusculus

all identical

ENSMUSG00000074825

455

Ggallus

no homologue

Trubripes

no homologue

Drerio

no homologue

Dmelanogaster

no homologue

Celegans

no homologue

Xtropicalis

no homologue

protein features

start (aa)	end (aa)	feature	details
125	555	TOPO_DOM	Cytoplasmic (Potential).	lost

length of protein

normal

AA sequence altered

yes

position of stopcodon in wt / mu CDS

1644 / 1644

position (AA) of stopcodon in wt / mu AA sequence

548 / 548

position of stopcodon in wt / mu cDNA

1760 / 1760

poly(A) signal

N/A

conservation
nucleotide level for all changes - no scoring up to now

N/A

position of start ATG in wt / mu cDNA

117 / 117

chromosome

strand

last intron/exon boundary

103

theoretical NMD boundary in CDS

cannot be calculated, too little distance between start ATG and last intron/exon boundary

length of CDS

1644

coding sequence (CDS) position

1364

cDNA position
(for ins/del: last normal base / first normal base)

1480

gDNA position
(for ins/del: last normal base / first normal base)

2689

chromosomal position
(for ins/del: last normal base / first normal base)

96993757

original gDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered gDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

original cDNA sequence snippet

CTTGCTACGGCTGCCCCTCACGGACTGGGCCCACAACATGC

altered cDNA sequence snippet

CTTGCTACGGCTGCCCCTCATGGACTGGGCCCACAACATGC

wildtype AA sequence

mutated AA sequence

MAVISLLFLA VMYVVHHPLM VSDRMDLDTL ARSRQLEKRM SEEMRLLEME FEERKRAAEQ
RQKAENFWTG DTSSDQLVLG KKDMGWPFQA DGQEGPLGWM LGNLWNTGLF CLFLVFELLR
QNMQHEPAFD SSSEEEEEEV RVVPVTSYNW LTDFPSQEAL DSFYKHYVQN AIRDLPCTCE
FVESFVDDLI EACRVLSRQE AHPQLEDCLG IGAAFEKWGT LHETQKFDIL VPIVPPQGTM
FVLEMRDPAL GRRCGCVLVE SECVCKREKL LGDVLCLVHH HRDPSAVLGK CSSSIKAALC
TGFHLDVCKT VQWFRNMMGN AWALVAHKYD FKLSLPPSTT SCKLRLDYRS GRFLSIHLVL
GVQREDTLVY LVSQAPDQEQ LTSVDWPESF VACEHLFLKL VGRFAPENTC HLKCLQIILS
LRQHQSLPHG ASRPILTSYH FKTALMHLLL RLPLMDWAHN MLSQRLQDIL WFLGRGLQQR
SLHHFLIGNN FLPLTIPIPK TFRNAEPVNL FQHLVLNPKA HSQAVEEFQN LLTQVKTLPH
APLAAAP*

speed

0.31 s

MutationTaster - study a chromosomal position

Results

Taster files

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

mutation t@sting

Prediction

polymorphism

Problems